Variant report

Variant	rs9642083
Chromosome Location	chr7:137546551-137546552
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137545557..137547633-chr7:137570311..137573208,2	MCF-7	breast:
2	chr7:137544294..137548451-chr7:137549639..137552753,4	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10235475	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244571	0.96[ASN][1000 genomes]
rs1125727	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs11769577	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12531271	0.87[CEU][hapmap]
rs12669567	1.00[ASN][1000 genomes]
rs1382397	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs1478535	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1564227	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2061794	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2351858	0.86[CEU][hapmap];0.85[CHB][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap]
rs4732272	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4732273	1.00[ASN][1000 genomes]
rs7783145	0.85[CHB][hapmap];0.87[EUR][1000 genomes]
rs7795163	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801878	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7809282	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9640912	0.94[ASN][1000 genomes]
rs9690988	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9690995	0.96[ASN][1000 genomes]
rs9757	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9642083	AKR1D1	cis	parietal	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137532200-137556400	Weak transcription	Esophagus	oesophagus
2	chr7:137532400-137546800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:137532400-137549800	Weak transcription	A549	lung
4	chr7:137532400-137552200	Weak transcription	Pancreas	Pancrea
5	chr7:137532600-137547200	Weak transcription	Ovary	ovary
6	chr7:137532800-137546600	Weak transcription	Adipose Nuclei	Adipose
7	chr7:137533800-137549400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:137533800-137551600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:137533800-137575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:137534200-137563000	Weak transcription	HMEC	breast
11	chr7:137534800-137547800	Weak transcription	Left Ventricle	heart
12	chr7:137535000-137552000	Weak transcription	Psoas Muscle	Psoas
13	chr7:137535200-137562600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:137535600-137547000	Weak transcription	NHLF	lung
15	chr7:137536000-137547800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:137536200-137552000	Weak transcription	Gastric	stomach
17	chr7:137536200-137557800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:137536800-137549800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:137537200-137549800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:137537400-137550600	Weak transcription	GM12878-XiMat	blood
21	chr7:137537400-137559000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:137537800-137551800	Weak transcription	Fetal Intestine Large	intestine
23	chr7:137538600-137547800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:137538800-137548000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:137540800-137549600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:137540800-137557200	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:137542000-137552000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:137542000-137558400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:137542400-137547800	Weak transcription	Fetal Stomach	stomach
30	chr7:137542600-137557200	Weak transcription	Spleen	Spleen
31	chr7:137543000-137550800	Weak transcription	Liver	Liver
32	chr7:137543400-137547200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:137543400-137550600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:137543400-137553400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:137543400-137557200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:137543400-137557800	Strong transcription	NH-A	brain
37	chr7:137543400-137566800	Strong transcription	Placenta	Placenta
38	chr7:137543600-137546800	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:137543600-137546800	Weak transcription	Lung	lung
40	chr7:137543600-137550600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:137543600-137553200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:137543800-137547800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:137543800-137557400	Strong transcription	Osteobl	bone
44	chr7:137544000-137550800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:137544000-137556200	Weak transcription	Fetal Intestine Small	intestine
46	chr7:137544200-137547200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:137544200-137548200	Strong transcription	HSMMtube	muscle
48	chr7:137544200-137549000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:137544200-137549200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:137544200-137549600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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